Incidental Mutation 'IGL02114:Zfp607b'
| ID |
280305 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Zfp607b
|
| Ensembl Gene |
ENSMUSG00000057093 |
| Gene Name |
zinc finger protein 607B |
| Synonyms |
C030039L03Rik |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.081)
|
| Stock # |
IGL02114
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
7 |
| Chromosomal Location |
27388765-27405909 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 27403150 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Phenylalanine to Leucine
at position 535
(F535L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000112494
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000076421]
[ENSMUST00000120004]
|
| AlphaFold |
G3X9H3 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000076421
AA Change: F535L
PolyPhen 2
Score 0.188 (Sensitivity: 0.92; Specificity: 0.87)
|
| SMART Domains |
Protein: ENSMUSP00000075755
Gene: ENSMUSG00000057093
AA Change: F535L
| Domain | Start | End | E-Value | Type |
|---|
|
KRAB
|
14 |
75 |
1.29e-35 |
SMART |
|
ZnF_C2H2
|
172 |
194 |
1.08e-1 |
SMART |
|
ZnF_C2H2
|
200 |
222 |
4.24e-4 |
SMART |
|
ZnF_C2H2
|
228 |
250 |
2.2e-2 |
SMART |
|
ZnF_C2H2
|
256 |
278 |
1.69e-3 |
SMART |
|
ZnF_C2H2
|
284 |
306 |
4.94e-5 |
SMART |
|
ZnF_C2H2
|
312 |
334 |
2.36e-2 |
SMART |
|
ZnF_C2H2
|
339 |
361 |
1.18e-2 |
SMART |
|
ZnF_C2H2
|
367 |
389 |
1.67e-2 |
SMART |
|
ZnF_C2H2
|
395 |
417 |
1.38e-3 |
SMART |
|
ZnF_C2H2
|
423 |
445 |
1.06e-4 |
SMART |
|
ZnF_C2H2
|
451 |
473 |
1.67e-2 |
SMART |
|
ZnF_C2H2
|
479 |
501 |
6.67e-2 |
SMART |
|
ZnF_C2H2
|
507 |
529 |
3.52e-1 |
SMART |
|
ZnF_C2H2
|
535 |
557 |
3.49e-5 |
SMART |
|
ZnF_C2H2
|
563 |
585 |
1.56e-2 |
SMART |
|
ZnF_C2H2
|
591 |
613 |
3.89e-3 |
SMART |
|
ZnF_C2H2
|
619 |
641 |
9.73e-4 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000120004
AA Change: F535L
PolyPhen 2
Score 0.188 (Sensitivity: 0.92; Specificity: 0.87)
|
| SMART Domains |
Protein: ENSMUSP00000112494
Gene: ENSMUSG00000057093
AA Change: F535L
| Domain | Start | End | E-Value | Type |
|---|
|
KRAB
|
14 |
75 |
1.29e-35 |
SMART |
|
ZnF_C2H2
|
172 |
194 |
1.08e-1 |
SMART |
|
ZnF_C2H2
|
200 |
222 |
4.24e-4 |
SMART |
|
ZnF_C2H2
|
228 |
250 |
2.2e-2 |
SMART |
|
ZnF_C2H2
|
256 |
278 |
1.69e-3 |
SMART |
|
ZnF_C2H2
|
284 |
306 |
4.94e-5 |
SMART |
|
ZnF_C2H2
|
312 |
334 |
2.36e-2 |
SMART |
|
ZnF_C2H2
|
339 |
361 |
1.18e-2 |
SMART |
|
ZnF_C2H2
|
367 |
389 |
1.67e-2 |
SMART |
|
ZnF_C2H2
|
395 |
417 |
1.38e-3 |
SMART |
|
ZnF_C2H2
|
423 |
445 |
1.06e-4 |
SMART |
|
ZnF_C2H2
|
451 |
473 |
1.67e-2 |
SMART |
|
ZnF_C2H2
|
479 |
501 |
6.67e-2 |
SMART |
|
ZnF_C2H2
|
507 |
529 |
3.52e-1 |
SMART |
|
ZnF_C2H2
|
535 |
557 |
3.49e-5 |
SMART |
|
ZnF_C2H2
|
563 |
585 |
1.56e-2 |
SMART |
|
ZnF_C2H2
|
591 |
613 |
3.89e-3 |
SMART |
|
ZnF_C2H2
|
619 |
641 |
9.73e-4 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000124397
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 40 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700084J12Rik |
C |
A |
15: 33,405,844 (GRCm39) |
|
probably benign |
Het |
| Akap3 |
T |
C |
6: 126,842,959 (GRCm39) |
V526A |
probably damaging |
Het |
| Ano6 |
C |
A |
15: 95,841,341 (GRCm39) |
S479R |
probably damaging |
Het |
| Aqp8 |
C |
A |
7: 123,063,419 (GRCm39) |
H90N |
probably damaging |
Het |
| Arih1 |
A |
T |
9: 59,333,452 (GRCm39) |
C229S |
probably damaging |
Het |
| Col6a6 |
C |
A |
9: 105,644,398 (GRCm39) |
|
probably null |
Het |
| Cp |
A |
G |
3: 20,020,511 (GRCm39) |
E168G |
probably benign |
Het |
| Creb5 |
C |
T |
6: 53,581,443 (GRCm39) |
|
probably benign |
Het |
| Cstdc3 |
T |
A |
16: 36,131,617 (GRCm39) |
Y42* |
probably null |
Het |
| Cyp2c66 |
C |
A |
19: 39,159,519 (GRCm39) |
|
probably benign |
Het |
| Dcpp2 |
C |
A |
17: 24,119,609 (GRCm39) |
A141D |
possibly damaging |
Het |
| Dnah5 |
A |
G |
15: 28,397,270 (GRCm39) |
D3321G |
probably damaging |
Het |
| Ecsit |
T |
C |
9: 21,989,440 (GRCm39) |
|
probably benign |
Het |
| Gabra1 |
T |
C |
11: 42,026,402 (GRCm39) |
I297V |
probably damaging |
Het |
| Gja8 |
T |
C |
3: 96,827,341 (GRCm39) |
K107R |
probably benign |
Het |
| Gm16686 |
A |
T |
4: 88,673,739 (GRCm39) |
L30Q |
probably null |
Het |
| Hbp1 |
T |
C |
12: 31,980,674 (GRCm39) |
|
probably benign |
Het |
| Inhbc |
T |
C |
10: 127,205,971 (GRCm39) |
I99V |
probably benign |
Het |
| Kcne3 |
T |
A |
7: 99,833,697 (GRCm39) |
|
probably benign |
Het |
| Larp1 |
T |
C |
11: 57,947,881 (GRCm39) |
Y926H |
probably damaging |
Het |
| Lhfpl5 |
G |
T |
17: 28,795,149 (GRCm39) |
A59S |
possibly damaging |
Het |
| Mov10 |
T |
A |
3: 104,702,634 (GRCm39) |
|
probably benign |
Het |
| Myl12b |
A |
T |
17: 71,284,164 (GRCm39) |
N21K |
possibly damaging |
Het |
| Ncoa7 |
A |
T |
10: 30,538,360 (GRCm39) |
V675E |
probably damaging |
Het |
| Nt5c1b |
T |
C |
12: 10,425,444 (GRCm39) |
I255T |
probably damaging |
Het |
| Numa1 |
T |
A |
7: 101,661,083 (GRCm39) |
|
probably benign |
Het |
| Or13c3 |
T |
A |
4: 52,856,144 (GRCm39) |
Y123F |
probably damaging |
Het |
| Otop2 |
A |
T |
11: 115,217,806 (GRCm39) |
D214V |
possibly damaging |
Het |
| Plec |
C |
A |
15: 76,057,748 (GRCm39) |
G3928V |
probably damaging |
Het |
| Prkcz |
T |
C |
4: 155,356,047 (GRCm39) |
E176G |
probably damaging |
Het |
| Qdpr |
G |
A |
5: 45,592,018 (GRCm39) |
T106I |
possibly damaging |
Het |
| R3hdm2 |
T |
G |
10: 127,319,978 (GRCm39) |
M481R |
probably damaging |
Het |
| Setdb2 |
C |
T |
14: 59,639,764 (GRCm39) |
R709Q |
probably damaging |
Het |
| Skic2 |
C |
T |
17: 35,060,092 (GRCm39) |
V145M |
probably damaging |
Het |
| Slx4ip |
T |
A |
2: 136,842,120 (GRCm39) |
V15D |
probably damaging |
Het |
| Stat4 |
T |
C |
1: 52,142,024 (GRCm39) |
S624P |
probably damaging |
Het |
| Tecpr2 |
T |
A |
12: 110,935,321 (GRCm39) |
L1380Q |
probably damaging |
Het |
| Traf2 |
T |
C |
2: 25,415,004 (GRCm39) |
I286V |
possibly damaging |
Het |
| Vmn2r30 |
T |
C |
7: 7,340,408 (GRCm39) |
I29V |
possibly damaging |
Het |
| Wdr43 |
A |
G |
17: 71,959,843 (GRCm39) |
Q561R |
probably benign |
Het |
|
| Other mutations in Zfp607b |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02090:Zfp607b
|
APN |
7 |
27,398,140 (GRCm39) |
missense |
possibly damaging |
0.75 |
|
IGL03171:Zfp607b
|
APN |
7 |
27,393,020 (GRCm39) |
missense |
possibly damaging |
0.70 |
|
IGL03329:Zfp607b
|
APN |
7 |
27,403,295 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0988:Zfp607b
|
UTSW |
7 |
27,402,401 (GRCm39) |
missense |
probably benign |
0.34 |
|
R1518:Zfp607b
|
UTSW |
7 |
27,398,087 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R1672:Zfp607b
|
UTSW |
7 |
27,391,948 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
R1733:Zfp607b
|
UTSW |
7 |
27,391,949 (GRCm39) |
missense |
possibly damaging |
0.66 |
|
R1992:Zfp607b
|
UTSW |
7 |
27,401,949 (GRCm39) |
missense |
possibly damaging |
0.87 |
|
R2849:Zfp607b
|
UTSW |
7 |
27,401,819 (GRCm39) |
missense |
probably benign |
0.00 |
|
R3879:Zfp607b
|
UTSW |
7 |
27,403,476 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R4117:Zfp607b
|
UTSW |
7 |
27,398,107 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R4439:Zfp607b
|
UTSW |
7 |
27,402,149 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4610:Zfp607b
|
UTSW |
7 |
27,403,120 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4755:Zfp607b
|
UTSW |
7 |
27,402,930 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4909:Zfp607b
|
UTSW |
7 |
27,403,221 (GRCm39) |
missense |
probably benign |
|
|
R5095:Zfp607b
|
UTSW |
7 |
27,393,061 (GRCm39) |
intron |
probably benign |
|
|
R5301:Zfp607b
|
UTSW |
7 |
27,403,172 (GRCm39) |
missense |
probably benign |
|
|
R5422:Zfp607b
|
UTSW |
7 |
27,401,813 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5538:Zfp607b
|
UTSW |
7 |
27,402,294 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5546:Zfp607b
|
UTSW |
7 |
27,402,032 (GRCm39) |
missense |
probably benign |
0.19 |
|
R5644:Zfp607b
|
UTSW |
7 |
27,403,194 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5649:Zfp607b
|
UTSW |
7 |
27,403,406 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5692:Zfp607b
|
UTSW |
7 |
27,402,889 (GRCm39) |
missense |
probably benign |
0.17 |
|
R5945:Zfp607b
|
UTSW |
7 |
27,401,841 (GRCm39) |
missense |
probably benign |
0.06 |
|
R6695:Zfp607b
|
UTSW |
7 |
27,403,464 (GRCm39) |
missense |
probably benign |
0.04 |
|
R7402:Zfp607b
|
UTSW |
7 |
27,392,919 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7515:Zfp607b
|
UTSW |
7 |
27,402,921 (GRCm39) |
missense |
probably benign |
0.03 |
|
R8402:Zfp607b
|
UTSW |
7 |
27,402,127 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8954:Zfp607b
|
UTSW |
7 |
27,403,387 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9494:Zfp607b
|
UTSW |
7 |
27,403,092 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9554:Zfp607b
|
UTSW |
7 |
27,402,464 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R9727:Zfp607b
|
UTSW |
7 |
27,403,125 (GRCm39) |
missense |
probably benign |
|
|
Z1177:Zfp607b
|
UTSW |
7 |
27,401,819 (GRCm39) |
missense |
probably benign |
0.00 |
|
| Posted On |
2015-04-16 |
Incidental Mutation